Ngaba kukho ingxaki ngeekhromosomu zomntwana wakho? Masithethe nge-Aneuploidy ngokulula!

Kuqhelekile ukuba wena, olindele ukuba ngumama, ube neenkxalabo ezininzi kunye noloyiko ngezinto ngeli xesha. Ingakumbi xa ucinga ngempilo yomntwana osesiswini sakho. Ngamanye amaxesha sibuza oogqirha, okanye nabantu abangaphantsi kwethu, malunga "nezifo zemfuza" okanye "iingxaki ze-chromosome." Yiloo nto siza kuthetha ngayo namhlanje, imeko ebizwa ngokuba yi -Aneuploidy . Igama lisenokuvakala ngathi yinto enkulu, kodwa ungakhathazeki. Siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.

Zithini iichromosomes? Masiyiqonde ngokulula.

Khawucinge nje, yonke iseli encinci emzimbeni wethu ineebhola ezincinci zentambo ngaphakathi kuyo. Yiloo nto siyibiza ngokuba ziichromosomes . Ngaphakathi kwezi chromosomes kukho iDNA yethu, ebaluleke kakhulu. Njengenkqubo ekwikhompyutha, le DNA iqulethe yonke imiyalelo nolwazi olufunekayo emzimbeni wethu ukuze ukhule, uphuhle, kwaye wenze yonke into. Sifumana le miyalelo kumama notata wethu. Yiyo loo nto ngamanye amaxesha sifana nomama wethu, ngamanye amaxesha sifana notata wethu, kwaye ngamanye amaxesha sixube zombini.

Mna nawe, sonke sifumene iichromosome ezingama-23 kumama wethu kunye nezingama-23 kutata wethu, nto leyo eyenza iichromosome ezingama-46 zizonke. Ezi zihlelwe ngababini ngaphakathi kweeseli zethu; oko kukuthi, izibini ezingama-23. Kwezi, izibini ezingama-22 ziyafana kuwo wonke umntu. Isibini sokugqibela simisela ukuba singabafazi okanye ngamadoda. Ngokwesiqhelo, ukuba yintombazana, ihlelwe njenge -XX , kwaye ukuba yinkwenkwe, ihlelwe njenge -XY .

Iiseli zomzimba wethu zihlala zitshintshwa. Xa iiseli ezindala zisifa, kwakheka iiseli ezintsha. Oku sikubiza ngokuba kukwahlukana kweeseli . Yinkqubo elula, njengaxa 'ukopisha' kwaye 'uncamathisela' kwikhompyutha. Xa iiseli zahlukana ngale ndlela, iichromosomes esithethe ngazo ziyafana, kwaye zingena kwiiseli ezimbini ezintsha ezenziweyo. Oku kwenzeka ebomini bethu bonke. Kwakhona, xa iiseli ezisisiseko ezifunekayo ukwenza umntwana omtsha, oko kukuthi, iqanda likamama kunye nesidoda sikatata, oku kwahlukana kweeseli nako kuyenzeka. Nangona kunjalo, ngamanye amaxesha kunokubakho iimpazamo ezincinci kunye nokusilela kolu kwahlukana kweechromosomes. Inani elichanekileyo leechromosomes ekufuneka zahlulwe lisenokungafani. Ukuba oko kuyenzeka, ezinye iiseli azifumani inani elichanekileyo leechromosomes ekufuneka zahlulwe. Leyo yeyona nto iphambili yeemeko zemfuza ezifana ne- (Turner syndrome) okanye (Down syndrome) .

Ngoko ke, yintoni le (i-aneuploidy)?

Ngamafutshane, i-aneuploidy kukungabikho kwenani elichanekileyo lee-chromosomes kwiiseli zethu, ezingama-46. Uninzi lwexesha, le meko yenzeka ngenxa yempazamo encinci eyenzeka xa kwakheka iqanda likamama okanye isidoda sikatata. Emva koko, njengoko umntwana eqala ukukhula, iqala ngotshintsho kwinani lee-chromosomes.

Kukho izinto ezimbini ezinokwenzeka kule nto:

1.I-Trisomy: Oku kuthetha ukuba kukho ikopi eyongezelelweyo yenye yee-chromosomes, nto leyo ebangela ukuba kubekho ii-chromosomes ezingama-47 zizonke.

2. I-Monosomy: Oku kuthetha ukuba i-chromosome enye ayikho, nto leyo ebangela ukuba kubekho ii-chromosome ezingama-45 zizonke.

Xa umntwana ekhulelwe ngolu hlobo lokungaqheleki kwe-chromosome, ukukhulelwa akusoloko kuphelela ngempumelelo. Kukho umngcipheko omkhulu wokuphuma kwesisu . Enyanisweni, izifundo zifumanise ukuba le meko (aneuploidy) ibangela malunga nesiqingatha sazo zonke izisu ezenzeka ngexesha le-trimester yokuqala.

Ziziphi iintlobo eziphambili ze-aneuploidy?

Njengoko besitshilo ngaphambili, kukho iintlobo ezimbini eziphambili ze-aneuploidy: iTrisomy kunye neMonosomy.

I-Trisomy

I-Trisomy ithetha ukuba umntwana une-chromosome eyongezelelweyo. Oku kwenza inani lilonke lee-chromosome libe yi-47. Kukho iimeko ezininzi eziphambili ezinokubangelwa koku:

• I-Down syndrome: Le yimeko esiva ngayo kakhulu. Okwenzeka apha kukuba kukho ikopi eyongezelelweyo ye-chromosome 21. Oko kuthetha ukuba kukho iikopi ezintathu ze-chromosome 21. Oku kukwabizwa ngokuba yi- (Trisomy 21) .
• (Trisomy 18) ITrisomy 18: Kulapho kukho ikopi eyongezelelweyo yechromosome 18. Ngaphambili eyaziwa ngokuba yi -Edwards syndrome , le meko inokubangela iingxaki ezininzi zempilo kwiintsana ezizelwe nale meko.
• (Trisomy 13) Trisomy 13: Kulapho kukho ikopi eyongezelelweyo yechromosome 13. Ngaphambili eyaziwa ngokuba yiPatau syndrome , le yimeko ebangela iingxaki zempilo ezinzulu.

I-Monosomy

I-Monosomy ithetha ukuba umntwana ufumana i-chromosome enye engaphantsi. Oku kubangela ukuba kubekho ii-chromosome ezingama-45 zizonke. Iimeko eziphambili ezibangelwa koku zezi:

• I-Turner syndrome: Esi sisifo se-chromosome yesini. Ngokwesiqhelo, umntwana obhinqileyo unee-chromosome ezimbini ze-X (XX). Umntwana obhinqileyo one-Turner syndrome une-chromosome enye ye-X kuphela. Oku kubizwa ngokuba yi- (Monosomy X) . Ekubeni kungekho chromosome ye-Y, aba bantwana bazalwa bengamantombazana.

Ngubani onokuthi achaphazeleke kakhulu yile meko?

Enyanisweni, imeko ebizwa ngokuba yi-aneuploidy inokuchaphazela naluphi na usana . Kwenzeka ngokungacwangciswanga. Nangona kunjalo, ezinye izifundo zifumanise ukuba umngcipheko uyanda kancinci njengoko umama ekhula . Umzekelo, umama oneminyaka engama-20 unethuba eli-1 kwi-1,480 lokuba nomntwana onesifo se-chromosome esingaqhelekanga, ngelixa umama oneminyaka engama-40 unethuba eli-1 kwi-65. Nangona kunjalo, oku akuthethi ukuba oomama abancinci abasengozini. Kwimeko ye-Turner syndrome, kuthiwa ubudala abudlali indima ebalulekileyo.

Yiyo loo nto, ukuba ucinga ngokuba nomntwana, thetha nogqirha kwaye ufumane ingcebiso ngemfuza.Kubaluleke kakhulu ukuyifumana. Emva koko unokuzazi ezi meko kwangaphambili, uqonde iingozi zakho, kwaye uthethe nangovavanyo olufunekayo.

Ixhaphake kangakanani i-aneuploidy? Ngaba kukho unxibelelwano nokukhulelwa okubangelwa kukuphuma kwezisu?

Ukuphazamiseka kwe-Aneuploidy kunye ne-chromosome kuxhaphake kakhulu kunokuba sicinga. Kwenzeka malunga nokukhulelwa okukodwa kwi-150 . I-Aneuploidy ikwabangela phantse i-50% yokuphuphuma kwesisu kwangoko . Oku kuthetha ukuba kwiimeko ezininzi, indalo iya kuyiphelisa i-chromosome engaqhelekanga endaweni yokuqhubeka nayo.

I-aneuploidy ingakuchaphazela njani ukukhulelwa?

Ukuba ne-chromosome eyongezelelweyo (iTrisomy) okanye ukungabikho kwe-chromosomes (iMonosomy) zombini ezi zinto zinokuchaphazela ukukhulelwa ngeendlela ezahlukeneyo.

I-Trisomy:

Uninzi lokukhulelwa nge-trisomy luphela ngokuphuphuma kwesisu . Izifundo zibonisa ukuba malunga ne-35% yazo zonke izisu eziphuphumayo zibangelwa yi-trisomy. Nangona kunjalo, kunqabile kakhulu, malunga ne-1% yeentsana zizalwa zineemeko ze-trisomy. Phakathi kwazo, ezixhaphakileyo ziintsana ezine-(Trisomy 21) okanye (Down syndrome). Ukuba umntwana uzalwa enemeko enjalo ye-trisomy, izinga lokusinda komntwana linokuba liphantsi kunosana oluqhelekileyo. Oku kungenxa yeengxaki ezahlukeneyo kunye neziphene zokuzalwa ezenzeka ekuzalweni.

I-Monosomy:

Iimeko ze-monosomy zinqabile kune-trisomies. Ngokokwaziwa, yi-Monosomy X kuphela, okanye i-Turner syndrome, ebangela ukuzalwa okuphilayo. I-Turner syndrome yenzeka xa kukho i-chromosome enye ye-X kuphela. Ngenxa yokuba kungekho chromosome ye-Y, aba bantwana bazalwa bengamantombazana.

Zithini iimpawu ze-aneuploidy?

Uphawu oluqhelekileyo lwe-aneuploidy kukuphuma kwesisu . Oku kwenzeka xa ukukhulelwa kuphela phakathi kwexesha. Oku kwenzeka rhoqo kwi-trimester yokuqala, kodwa ngamanye amaxesha kuyenzeka kamva. Iimpawu zokuphuma kwesisu ziquka:

• Ukuba nentlungu esezantsi kwesisu nasemva.
• Ukuqaqamba okufana nokuya exesheni.
• Mhlawumbi kancinci, mhlawumbi ukopha kakhulu.

Kubalulekile: Ukuba ucinga ukuba unale mpawu, kufuneka ubone ugqirha ngokukhawuleza.

Nangona kunjalo, nangona malunga ne-50% yokuphuphuma kwesisu kubangelwa zizizathu zemfuza ezifana ne-aneuploidy, abantwana ngamanye amaxesha banokuzalwa benale meko. Abantwana abanjalo banamathuba amaninzi okuba neziphene zokuzalwa , kunye nokulibaziseka kokukhula kunye nokukhubazeka kwengqondo .

Kutheni le nto (i-aneuploidy) yenzeka? Zithini izizathu?

I-Aneuploidy sisiphene semfuza. Ngokuqhelekileyo, esi siphene senzeka ngaphambi kokuba iqanda likamama kunye nesidoda sikatata sihlangane, oko kukuthi, ngexesha lenkqubo yokwakheka kweqanda kunye nesidoda. Sithethe ngaphambili malunga nokwahlukana kweeseli. Amaqanda kunye nesidoda senziwa yinkqubo ekhethekileyo yokwahlukana kweeseli ebizwa ngokuba yi-meiosis . Apha, iseli enama-chromosomes angama-46 yahlulahlulwa kabini, idala iiseli ezine (amaqanda okanye isidoda) ezinee-chromosomes ezingama-23 nganye. I-Aneuploidy yenzeka xa izibini ze-chromosome zingahlukani kakuhle ngexesha le-meiosis, kwaye amanye amaqanda okanye isidoda anee-chromosomes ezininzi kakhulu okanye ezimbalwa kakhulu.

Le yinto eyenzeka ngequbuliso nangokungalindelekanga . Njengokuba iprinta eofisini ngamanye amaxesha iyeka ukusebenza ngequbuliso, okanye iphepha liprintwe endaweni yalo, iDNA yethu nayo inokuba neempazamo ezinjalo. Akukho mntu unokutsho ukuba kuza kwenzeka nini okanye njani. Ukuba ufuna ukwazi okungakumbi ngale nto, licebo elihle ukuthetha nogqirha kwaye ufumane ingcebiso ngemfuza.

Ngaba kukho iimvavanyo ezinokubona i-aneuploidy ngexesha lokukhulelwa?

Ewe, kukho iimvavanyo ezininzi ezinokwenziwa ngexesha lokukhulelwa ukuze kufunyaniswe ukuba umntwana unesifo esibizwa ngokuba yi-aneuploidy. Ezinye zezi zilingo zovavanyo, ngelixa ezinye zizilingo zokuxilonga.

• Uvavanyo Lokukhulelwa Ngaphambi Kokukhulelwa Olungenalo Utyando (NIPT) / Uvavanyo Lokukhulelwa Ngaphambi Kokukhulelwa Olungenalo Utyando (NIPS): Olu luvavanyo lwegazi olulula olunokwenziwa emva kweeveki ezili-10 zokukhulelwa. Luthatha isampuli yegazi likamama luze lujonge iDNA yomntwana kulo ukuze lubone ukuba kunokwenzeka kangakanani ukuba abe neemeko ezifana neDown syndrome, iTrisomy 18, kunye neTrisomy 13. Oku kukuxelela kuphela umngcipheko, kungekhona unobangela ochanekileyo.
• Isampuli yeChorionic Villus (CVS): Olu luvavanyo olwenziwa phakathi kweeveki ezili-10 ukuya kwezili-13 zokukhulelwa. Apha, ugqirha uthatha isampuli encinci kakhulu yeeseli kwi-placenta aze ayivavanye ukuze abone ukuba kukho iimeko zemfuza. Oku kunokufumanisa ngokuchanekileyo iimeko ezifana ne-aneuploidy. Nangona kunjalo, kunomngcipheko omncinci kakhulu wokuphuphuma kwesisu.
• I-Amniocentesis: Olu luvavanyo oludla ngokwenziwa phakathi kweeveki ezili-15 ukuya kwezingama-20 zokukhulelwa. Apha, ugqirha uthatha isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana aze ahlole iiseli zomntwana ezikuyo. Oku kunokufumanisa ngokuchanekileyo iimeko ezifana ne-aneuploidy kunye nezinye iziphene zokuzalwa. Kukwakho nomngcipheko omncinci kakhulu wokuphuma kwesisu.

Ngaphambi kokuba wenze isigqibo malunga nezi mvavanyo, kubaluleke kakhulu ukuthetha ngononophelo nogqirha wakho uze uqonde izinto ezilungileyo nezingalunganga.

Iphathwa njani i-Aneuploidy?

Enyanisweni, akukho nyango luthile lwesi sifo (i-Aneuploidy).. Iimeko ezininzi ze-aneuploidy zibulala usana, okanye zibangela iingxaki ezinkulu ezifana nokukhubazeka kwengqondo kunye neziphene zomzimba. Ke ngoko, unyango lujolise ekunyangeni iimpawu kunye neengxaki zomntwana ngamnye. Oko kuthetha ukudala isicwangciso sonyango esilungiselelwe umntwana ngamnye kwaye simgcine esempilweni.

Ukuba ukhulelwe, kukho umngcipheko wokuphuphuma kwesisu ngenxa ye-(aneuploidy). Ukuphuphuma kwesisu ngamava anzima kakhulu kumfazi, ngokwasemzimbeni nangokweemvakalelo. Ukuba oku kuyenzeka, kufuneka uzinike ixesha lokuphola.

Ukuba ucinga ngokuqala usapho, thetha nogqirha malunga novavanyo lwemfuza kunye neendlela zokwandisa amathuba akho okukhulelwa ngempumelelo.

Ngaba kukho into esinokuyenza ukunciphisa umngcipheko we-aneuploidy?

I-Aneuploidy ayinakuthintelwa ngokupheleleyo kuba sisiphene esingaqhelekanga semfuza. Nangona kunjalo, kukho izinto ezininzi esinokuzenza ukunciphisa umngcipheko wokuba umntwana azalwe enesiphene:

• Ukutya ukutya okunesondlo: Ukutya ukutya okunesondlo kubaluleke kakhulu ngexesha lokukhulelwa.
• Yenza uvavanyo lwemfuza ngaphambi kokuba ucebe ukukhulelwa: Ingakumbi ukuba umntu kusapho lwakho unesifo semfuza, okanye ukuba uneminyaka engaphezu kwama-35 ubudala.
• Ziphephe ngokupheleleyo ukutshaya nokusebenzisa utywala.
• Ukusela iivithamini zokukhulelwa ezicetyiswa ngugqirha wakho ngokuchanekileyo: ingakumbi iivithamini ezine-folic acid.

Ukuba uphunyelwe sisisu ngenxa ye-aneuploidy, ungaphinda ukhulelwe?

Ewe, uninzi lwexesha kunokwenzeka . Amathuba okuba isisu siphume ngenxa ye-aneuploidy siphinde senzeke aphantsi kakhulu. Kuba, njengoko besitshilo ngaphambili, esi sisiganeko esingacwangciswanga. Abafazi abaninzi baye baba nabantwana abasempilweni emva kokuphuphuma ngenxa ye-aneuploidy. Nangona kunjalo, licebo elihle ukuthetha nogqirha wakho malunga nemingcipheko yakho kunye novavanyo olunokwenziwa ngaphambi kokuba uzame ukukhulelwa kwakhona.

Yintoni onokuyilindela ukuba unomntwana one-aneuploidy?

Amaxesha amaninzi, xa kufunyaniswa ukuba kukho imeko (i-aneuploidy), abazali kufuneka bajongane nokukhulelwa kwesisu. Le yinto ebuhlungu kakhulu. Kodwa into ebalulekileyo ekufuneka uyiqonde kukuba oku kwenzeke ngenxa yesiphene semfuza esenzeka ngexesha lokukhulelwa, kungekhona ngenxa yento eyenziwe ngumama ngexesha lokukhulelwa. Ugqirha wakho uza kukunceda uphile ngokwasemzimbeni nangokweemvakalelo emva kokukhulelwa kwesisu.

Ukuba umntwana uzelwe ene-aneuploidy, loo mntwana unokujongana nokulibaziseka kokukhula , ukufutshane, iziphene zokuzalwa, kunye nokukhubazeka kwengqondo ubomi bakhe bonke. Kungoko ke, kubaluleke kakhulu ukujonga impilo yomntwana rhoqo kugqirha kwaye unike unyango olufunekayo kunye nenkxaso. Akukho unyango olupheleleyo lwe-aneuploidy.

Ufanele uye nini kugqirha?

• Uneempawu zokuphunyelwa sisisu.Ukuba uneempawu ezithile (iintlungu zesisu, iintlungu zomqolo, ukopha), bona ugqirha ngokukhawuleza. Uza kukuxelela ukuba kufuneka uye esibhedlele okanye hayi.
• Emva kokuphuphuma kwesisu, ukuba ufumana naziphi na kwezi mpawu, bonana nogqirha ngoko nangoko, kuba zinokuba luphawu losulelo:
• Ukuba unomkhuhlane kunye nomkhuhlane (Ukugodola, Umkhuhlane)
• Ukuba wopha kakhulu (ukopha kakhulu)
• Ukuba unentlungu rhoqo kwaye ungakhululekanga

Yeyiphi imibuzo ebalulekileyo omele uyibuze ugqirha wakho?

Xa uthetha nogqirha ngale nto, ungalibali ukubuza le mibuzo:

• Ngaba ndisemngciphekweni wokuba nomntwana onesifo esibangelwa lufuzo?
• Emva kokuphuphuma kwesisu ngenxa ye-aneuploidy, ngaba umzimba wam uphilile ngokwaneleyo ukuba ndingafumana omnye umntwana?
• Ukuba ndisemngciphekweni wokuba nomntwana onesifo semfuza, ngaba ucebisa ukuba kuhlolwe ezinye izifo ngaphambi kokuzalwa?

Yintoni umahluko phakathi kwe-(Aneuploidy) kunye ne-(Polyploidy)?

I-Aneuploidy kunye ne-polyploidy zombini ziimeko zemfuza ezibangelwa kukutshintsha kwenani lee-chromosomes kwi-DNA yomntwana. Kodwa kukho umahluko omncinci.

• I-Aneuploidy kukubakho kwe-chromosome enye eyongezelelweyo (umz. 47) okanye i-chromosome enye engaphantsi (umz. 45). Kunqabile ukuba kubekho ii-chromosome ezininzi ezilahlekileyo/ezongeziweyo.
• I-Polyploidy yimeko yokuba neseti eyongezelelweyo yee-chromosomes (oko kukuthi, ii-chromosomes ezingama-23). ​​Umzekelo, ukuba ufumana ii-chromosomes ezingama-23 kumama wakho kunye nee-chromosomes ezingama-46 kutata wakho (oko kukuthi, kabini kwinani eliqhelekileyo), ibizwa ngokuba yiTriploidy. Ezi ziimeko ezinqabileyo kakhulu kwaye zihlala zibulala.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Aneuploidy inokuba yinto eyoyikisayo xa usiva ngayo. Kodwa khumbula, idla ngokuba yinto eyenzeka ngokungacwangciswanga, ngaphandle kwetyala lakho. Njengokuba ikhompyutha esiyisebenzisayo iyeka ukusebenza ngequbuliso, nokuba iiseli zethu zahlukana, iimpazamo ezincinci zinokwenzeka ngamanye amaxesha.

Eyona nto ibalulekileyo kukwazi ukuba awuwedwa. Kukho oogqirha, usapho, kunye nabahlobo abanokuthetha ngale nto, bakunike iingcebiso, kwaye bakuncede. Ukuba uceba ukukhulelwa, okanye sele ukhulelwe, thetha ngokukhululekileyo ngale nto nogqirha wakho. Fumana ingcebiso yemfuza. Oku kuya kukunceda uqonde iimeko ezifana ne-aneuploidy, iingozi zakho, kunye novavanyo olunokwenziwa. Kwakhona, ukuba kufuneka ujongane namava abuhlungu njengokuphuphuma kwesisu, ungathandabuzi ukufumana inkxaso oyifunayo ukuze uphile ngokwasemzimbeni nangokweemvakalelo kuyo.

Siyathemba ukuba yonke into iza kuhamba kakuhle!

Iikhromosomu , i-aneuploidy, iijini, ukukhulelwa, ukuphuphuma kwesisu, i-Down syndrome, i-Turner syndrome, i-trisomy, i-monosomy, uvavanyo lwemfuza, iziphene zokuzalwa, i-DNA, ukwahlukana kweeseli